Medical Affairs Division, PRA Health Sciences, Raleigh, NC, USA.
Department of Neurology, Wayne State University, Detroit, MI, USA.
Ann Neurol. 2021 Feb;89(2):369-379. doi: 10.1002/ana.25966. Epub 2020 Dec 7.
Charcot-Marie-Tooth disease (CMT) reduces health-related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT-specific QOL outcome measure (pCMT-QOL).
Development and validation of the pCMT-QOL patient-reported outcome measure were iterative, involving identifying relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus-group interviews, and psychometric testing. Testing was conducted in children with CMT seen at participating sites from the USA, United Kingdom, and Australia.
We conducted systematic literature reviews and analysis of generic QOL measures to identify 6 domains relevant to QOL in children with CMT. Sixty items corresponding to those domains were developed de novo, or identified from literature review and CMT-specific modification of items from the pediatric Neuro-QOL measures. The draft version underwent prospective feasibility and face content validity assessments to develop a working version of the pCMT-QOL measure. From 2010 to 2016, the pCMT-QOL working version was administered to 398 children aged 8 to 18 years seen at the participating study sites of the Inherited Neuropathies Consortium. The resulting data underwent rigorous psychometric analysis, including factor analysis, test-retest reliability, internal consistency, convergent validity, item response theory analysis, and longitudinal analysis, to develop the final pCMT-QOL patient-reported outcome measure.
The pCMT-QOL patient-reported outcome measure is a reliable, valid, and sensitive measure of health-related QOL for children with CMT. ANN NEUROL 2021;89:369-379.
Charcot-Marie-Tooth 病（CMT）会降低健康相关生活质量（QOL），尤其是在儿童中。在儿科 CMT 中定义 QOL 有助于医生在临床和试验中监测疾病负担。我们确定了与 CMT 儿童相关的 QOL 项目，并进行了验证研究，以开发儿科 CMT 特异性 QOL 结局测量工具（pCMT-QOL）。
pCMT-QOL 患者报告结局测量工具的开发和验证是迭代进行的，包括确定相关领域、生成项目池、前瞻性试点测试和临床评估、结构焦点小组访谈和心理测量测试。测试在来自美国、英国和澳大利亚的参与地点就诊的 CMT 儿童中进行。
我们进行了系统的文献回顾和通用 QOL 测量分析，以确定与 CMT 儿童 QOL 相关的 6 个领域。根据这些领域开发了 60 个新项目，或从文献回顾和 CMT 特定的项目修改中确定了项目，这些项目来自儿科神经 QOL 测量。草案经过前瞻性可行性和面部内容有效性评估，以开发 pCMT-QOL 测量工具的工作版本。2010 年至 2016 年，遗传性神经病学联合会参与研究地点就诊的 398 名 8 至 18 岁的儿童接受了 pCMT-QOL 工作版本的测试。由此产生的数据进行了严格的心理测量分析，包括因子分析、测试-重测信度、内部一致性、收敛有效性、项目反应理论分析和纵向分析，以开发最终的 pCMT-QOL 患者报告结局测量工具。
pCMT-QOL 患者报告结局测量工具是一种可靠、有效且敏感的 CMT 儿童健康相关 QOL 测量工具。神经病学杂志 2021；89：369-379。
